Product Details

SNP ID

rs139186290

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:79453280 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGCCAATGACACTCTCATGGACT[G/T]TGCTAGTCCAGTGGCTTTTCTTTTT

Phenotype

MIM: 606382

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

MAGI2 PubMed Links

Gene Details

Gene

MAGI2

Gene Name

membrane associated guanylate kinase, WW and PDZ domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001301128.1	526	Missense Mutation	AAA,ACA	K14T	NP_001288057.1
NM_012301.3	526	Missense Mutation	AAA,ACA	K14T	NP_036433.2
XM_011516718.1	526	Missense Mutation	AAA,ACA	K14T	XP_011515020.1
XM_011516719.2	526	Intron			XP_011515021.1
XM_011516720.2	526	Intron			XP_011515022.1
XM_011516726.2	526	Intron			XP_011515028.1
XM_011516728.1	526	Intron			XP_011515030.1
XM_017012840.1	526	Missense Mutation	AAA,ACA	K14T	XP_016868329.1
XM_017012841.1	526	Missense Mutation	AAA,ACA	K14T	XP_016868330.1
XM_017012842.1	526	Missense Mutation	AAA,ACA	K14T	XP_016868331.1
XM_017012843.1	526	Missense Mutation	AAA,ACA	K14T	XP_016868332.1
XM_017012844.1	526	Missense Mutation	AAA,ACA	K14T	XP_016868333.1
XM_017012845.1	526	Missense Mutation	AAA,ACA	K14T	XP_016868334.1
XM_017012846.1	526	Missense Mutation	AAA,ACA	K14T	XP_016868335.1
XM_017012847.1	526	Intron			XP_016868336.1
XM_017012848.1	526	Intron			XP_016868337.1
XM_017012849.1	526	Intron			XP_016868338.1
XM_017012850.1	526	Missense Mutation	AAA,ACA	K14T	XP_016868339.1
XM_017012851.1	526	Missense Mutation	AAA,ACA	K14T	XP_016868340.1
XM_017012852.1	526	Missense Mutation	AAA,ACA	K14T	XP_016868341.1

Gene

MAGI2-AS3

Gene Name

MAGI2 antisense RNA 3

There are no transcripts associated with this gene.

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